Incidental Mutation 'R7829:Abcb1a'
| ID |
602315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcb1a
|
| Ensembl Gene |
ENSMUSG00000040584 |
| Gene Name |
ATP-binding cassette, sub-family B member 1A |
| Synonyms |
Evi32, multiple drug resistant 1a, Pgp, MDR3, Pgy-3, Mdr1a, P-glycoprotein, P-gp, Pgy3, mdr-3 |
| MMRRC Submission |
045883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R7829 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8748623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 318
(I318N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047753]
|
| AlphaFold |
P21447 |
| PDB Structure |
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structure of Mouse P-Glycoprotein [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein bound to QZ59-RRR [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein bound to QZ59-SSS [X-RAY DIFFRACTION]
>> 5 additional structures at PDB <<
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047753
AA Change: I318N
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: I318N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
Pfam:ABC_membrane
|
50 |
339 |
8.3e-97 |
PFAM |
|
AAA
|
415 |
607 |
1.22e-20 |
SMART |
|
Pfam:ABC_membrane
|
707 |
982 |
4.8e-79 |
PFAM |
|
AAA
|
1058 |
1246 |
8.85e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a p-glycoprotein which actively transports a variety of hydrophobic amphipathic drugs and plays a major role in the blood-brain barrier permeability of certain drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine. Mice with a null allele develop spontanous colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
G |
11: 58,770,823 (GRCm39) |
L102V |
not run |
Het |
| Abca12 |
A |
T |
1: 71,331,580 (GRCm39) |
S1323R |
probably benign |
Het |
| Adam10 |
A |
T |
9: 70,674,209 (GRCm39) |
K524* |
probably null |
Het |
| Adamts3 |
C |
T |
5: 90,009,349 (GRCm39) |
G105R |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,042,387 (GRCm39) |
I418T |
probably damaging |
Het |
| Alg9 |
T |
A |
9: 50,699,471 (GRCm39) |
F165L |
probably damaging |
Het |
| Anapc2 |
G |
T |
2: 25,167,753 (GRCm39) |
R440L |
probably damaging |
Het |
| Arhgef17 |
A |
T |
7: 100,526,052 (GRCm39) |
H1876Q |
probably benign |
Het |
| Armc2 |
G |
A |
10: 41,802,856 (GRCm39) |
R606C |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,281,738 (GRCm39) |
S14P |
probably benign |
Het |
| Cfap74 |
T |
C |
4: 155,513,694 (GRCm39) |
V502A |
|
Het |
| Copb2 |
T |
C |
9: 98,470,147 (GRCm39) |
I891T |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,566,322 (GRCm39) |
L276P |
probably damaging |
Het |
| Crnkl1 |
T |
A |
2: 145,773,269 (GRCm39) |
M126L |
probably benign |
Het |
| Csrp2 |
C |
T |
10: 110,771,045 (GRCm39) |
A50V |
probably damaging |
Het |
| Ctsd |
A |
G |
7: 141,930,879 (GRCm39) |
C284R |
probably damaging |
Het |
| Dll3 |
G |
A |
7: 27,994,075 (GRCm39) |
A454V |
probably damaging |
Het |
| Dmbx1 |
C |
T |
4: 115,781,104 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,104,902 (GRCm39) |
E1896* |
probably null |
Het |
| Dtwd1 |
A |
G |
2: 126,006,679 (GRCm39) |
T234A |
probably damaging |
Het |
| Fhod3 |
G |
A |
18: 25,248,947 (GRCm39) |
|
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,597,463 (GRCm39) |
|
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,297 (GRCm39) |
I495T |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,288,532 (GRCm39) |
N51S |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,035,366 (GRCm39) |
|
probably null |
Het |
| Hsd17b14 |
A |
C |
7: 45,216,209 (GRCm39) |
S260R |
probably benign |
Het |
| Insig2 |
A |
T |
1: 121,235,058 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
A |
11: 73,029,618 (GRCm39) |
V1046D |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,305,447 (GRCm39) |
|
probably null |
Het |
| Kmo |
A |
G |
1: 175,478,225 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,496,483 (GRCm39) |
N29S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,793,460 (GRCm39) |
C2484* |
probably null |
Het |
| Lrrc23 |
T |
A |
6: 124,747,711 (GRCm39) |
M293L |
probably benign |
Het |
| Mphosph6 |
T |
C |
8: 118,525,807 (GRCm39) |
D47G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naglu |
G |
A |
11: 100,967,436 (GRCm39) |
R462H |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nlrc5 |
T |
C |
8: 95,248,397 (GRCm39) |
S1711P |
probably damaging |
Het |
| Or10al7 |
T |
C |
17: 38,366,220 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Or1o2 |
T |
C |
17: 37,543,201 (GRCm39) |
E20G |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,425 (GRCm39) |
I29F |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,423,731 (GRCm39) |
A857T |
probably damaging |
Het |
| Oscp1 |
C |
A |
4: 125,982,201 (GRCm39) |
D380E |
probably benign |
Het |
| Pdzd7 |
C |
A |
19: 45,027,678 (GRCm39) |
R265S |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,246,947 (GRCm39) |
|
probably null |
Het |
| Pigc |
G |
A |
1: 161,798,033 (GRCm39) |
R5H |
probably benign |
Het |
| Pla2g5 |
C |
A |
4: 138,531,845 (GRCm39) |
R53L |
probably benign |
Het |
| Rbm6 |
T |
C |
9: 107,729,905 (GRCm39) |
R248G |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,095,526 (GRCm39) |
L877Q |
probably damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,589 (GRCm39) |
N474K |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,842,493 (GRCm39) |
E468V |
possibly damaging |
Het |
| Samd9l |
A |
C |
6: 3,374,749 (GRCm39) |
D837E |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,178,727 (GRCm39) |
N1124S |
probably damaging |
Het |
| Slc11a2 |
G |
A |
15: 100,307,142 (GRCm39) |
A83V |
possibly damaging |
Het |
| Slfn14 |
A |
G |
11: 83,172,643 (GRCm39) |
|
probably null |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,252,226 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
C |
10: 5,292,293 (GRCm39) |
V1325G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,784,538 (GRCm39) |
S706G |
probably benign |
Het |
| Tox2 |
T |
C |
2: 163,162,296 (GRCm39) |
Y389H |
probably damaging |
Het |
| Trappc10 |
T |
C |
10: 78,034,909 (GRCm39) |
T946A |
probably benign |
Het |
| Ubqln1 |
C |
T |
13: 58,325,719 (GRCm39) |
E546K |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,538 (GRCm39) |
V1411A |
possibly damaging |
Het |
| Zkscan5 |
A |
T |
5: 145,155,513 (GRCm39) |
K395* |
probably null |
Het |
|
| Other mutations in Abcb1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00704:Abcb1a
|
APN |
5 |
8,736,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00898:Abcb1a
|
APN |
5 |
8,783,690 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01064:Abcb1a
|
APN |
5 |
8,782,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01118:Abcb1a
|
APN |
5 |
8,724,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01150:Abcb1a
|
APN |
5 |
8,752,550 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01584:Abcb1a
|
APN |
5 |
8,748,637 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01654:Abcb1a
|
APN |
5 |
8,765,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01820:Abcb1a
|
APN |
5 |
8,765,896 (GRCm39) |
splice site |
probably benign |
|
|
IGL02499:Abcb1a
|
APN |
5 |
8,776,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02711:Abcb1a
|
APN |
5 |
8,773,245 (GRCm39) |
splice site |
probably null |
|
|
IGL02954:Abcb1a
|
APN |
5 |
8,782,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03018:Abcb1a
|
APN |
5 |
8,752,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03119:Abcb1a
|
APN |
5 |
8,764,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03292:Abcb1a
|
APN |
5 |
8,765,827 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03338:Abcb1a
|
APN |
5 |
8,744,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Abcb1a
|
UTSW |
5 |
8,763,281 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0559:Abcb1a
|
UTSW |
5 |
8,748,535 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0595:Abcb1a
|
UTSW |
5 |
8,790,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Abcb1a
|
UTSW |
5 |
8,748,539 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0811:Abcb1a
|
UTSW |
5 |
8,763,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Abcb1a
|
UTSW |
5 |
8,763,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Abcb1a
|
UTSW |
5 |
8,724,856 (GRCm39) |
splice site |
probably benign |
|
|
R0948:Abcb1a
|
UTSW |
5 |
8,790,621 (GRCm39) |
splice site |
probably null |
|
|
R1292:Abcb1a
|
UTSW |
5 |
8,763,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1318:Abcb1a
|
UTSW |
5 |
8,751,621 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1459:Abcb1a
|
UTSW |
5 |
8,752,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1489:Abcb1a
|
UTSW |
5 |
8,736,300 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1514:Abcb1a
|
UTSW |
5 |
8,724,791 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2100:Abcb1a
|
UTSW |
5 |
8,763,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2409:Abcb1a
|
UTSW |
5 |
8,788,747 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2844:Abcb1a
|
UTSW |
5 |
8,736,164 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3709:Abcb1a
|
UTSW |
5 |
8,788,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3755:Abcb1a
|
UTSW |
5 |
8,797,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4193:Abcb1a
|
UTSW |
5 |
8,765,068 (GRCm39) |
splice site |
probably null |
|
|
R4401:Abcb1a
|
UTSW |
5 |
8,752,390 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4463:Abcb1a
|
UTSW |
5 |
8,769,981 (GRCm39) |
splice site |
probably benign |
|
|
R4539:Abcb1a
|
UTSW |
5 |
8,765,793 (GRCm39) |
missense |
probably benign |
|
|
R4635:Abcb1a
|
UTSW |
5 |
8,764,927 (GRCm39) |
missense |
probably benign |
|
|
R4740:Abcb1a
|
UTSW |
5 |
8,752,280 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4757:Abcb1a
|
UTSW |
5 |
8,787,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4764:Abcb1a
|
UTSW |
5 |
8,765,732 (GRCm39) |
splice site |
probably null |
|
|
R4792:Abcb1a
|
UTSW |
5 |
8,796,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4829:Abcb1a
|
UTSW |
5 |
8,773,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4935:Abcb1a
|
UTSW |
5 |
8,787,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5140:Abcb1a
|
UTSW |
5 |
8,752,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5181:Abcb1a
|
UTSW |
5 |
8,764,937 (GRCm39) |
missense |
probably benign |
|
|
R5355:Abcb1a
|
UTSW |
5 |
8,776,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5406:Abcb1a
|
UTSW |
5 |
8,752,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5496:Abcb1a
|
UTSW |
5 |
8,724,818 (GRCm39) |
missense |
probably benign |
|
|
R5557:Abcb1a
|
UTSW |
5 |
8,764,949 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5572:Abcb1a
|
UTSW |
5 |
8,765,108 (GRCm39) |
splice site |
probably null |
|
|
R5702:Abcb1a
|
UTSW |
5 |
8,787,752 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5753:Abcb1a
|
UTSW |
5 |
8,773,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5769:Abcb1a
|
UTSW |
5 |
8,733,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5895:Abcb1a
|
UTSW |
5 |
8,752,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6536:Abcb1a
|
UTSW |
5 |
8,769,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6555:Abcb1a
|
UTSW |
5 |
8,752,468 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6798:Abcb1a
|
UTSW |
5 |
8,782,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Abcb1a
|
UTSW |
5 |
8,751,628 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7000:Abcb1a
|
UTSW |
5 |
8,752,823 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7102:Abcb1a
|
UTSW |
5 |
8,744,072 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7172:Abcb1a
|
UTSW |
5 |
8,752,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Abcb1a
|
UTSW |
5 |
8,773,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Abcb1a
|
UTSW |
5 |
8,765,771 (GRCm39) |
nonsense |
probably null |
|
|
R7718:Abcb1a
|
UTSW |
5 |
8,765,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7816:Abcb1a
|
UTSW |
5 |
8,736,132 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7943:Abcb1a
|
UTSW |
5 |
8,736,222 (GRCm39) |
missense |
probably benign |
|
|
R8040:Abcb1a
|
UTSW |
5 |
8,765,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8086:Abcb1a
|
UTSW |
5 |
8,724,833 (GRCm39) |
missense |
probably benign |
|
|
R8271:Abcb1a
|
UTSW |
5 |
8,736,212 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8367:Abcb1a
|
UTSW |
5 |
8,736,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8520:Abcb1a
|
UTSW |
5 |
8,735,346 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8680:Abcb1a
|
UTSW |
5 |
8,735,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8820:Abcb1a
|
UTSW |
5 |
8,773,204 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8996:Abcb1a
|
UTSW |
5 |
8,769,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9114:Abcb1a
|
UTSW |
5 |
8,788,702 (GRCm39) |
nonsense |
probably null |
|
|
R9127:Abcb1a
|
UTSW |
5 |
8,724,707 (GRCm39) |
missense |
probably benign |
|
|
R9187:Abcb1a
|
UTSW |
5 |
8,765,016 (GRCm39) |
missense |
probably benign |
|
|
R9294:Abcb1a
|
UTSW |
5 |
8,736,171 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9459:Abcb1a
|
UTSW |
5 |
8,735,414 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9581:Abcb1a
|
UTSW |
5 |
8,790,428 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9617:Abcb1a
|
UTSW |
5 |
8,797,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9676:Abcb1a
|
UTSW |
5 |
8,714,548 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9682:Abcb1a
|
UTSW |
5 |
8,752,507 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9790:Abcb1a
|
UTSW |
5 |
8,748,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9791:Abcb1a
|
UTSW |
5 |
8,748,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Abcb1a
|
UTSW |
5 |
8,796,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATACTACAGGGCTGGGCATG -3'
(R):5'- GGCTACAGTAGAAATTGTACAACAG -3'
Sequencing Primer
(F):5'- GGCATGTTCCGACTGATCACTAAC -3'
(R):5'- ACCGAACAATGCATTTTCTA -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation